| Primary Identifier | MGI:5648222 | Allele Type | Chemically induced (ENU) |
| Gene | Sc5d | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| Project Collection | B2B/CvDC |
| description | Summative Diagnosis: Cardiovascular phenotypes: Hypoplastic right ventricle Noncardiovascular phenotype: Micrognathia, bilateral kidney agenesis, hoof-like hindlimbs and syndactyly on the forelimb Phenotypic Similarity to Human Syndrome: Optiz Lemmli Syndrome |
| molecularNote | This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at nucleotide +4 following coding nucleotide 343 (c.343+4A>G, NM_172769) of intron 4. This may affect splicing from the nearby splice donor site. |
